Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic defect. The purpose of this study was to evaluate the profile of G6PD deficiency and investigate the factors associated with the accuracy of newborn screening (NBS) in Xiamen, China. Methods: A total of 9...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Xudong, Xia, Zhongmin, He, Ying, Zhou, Xiaoman, Zhang, Haixia, Gao, Chunliu, Ge, Yunsheng, Cai, Xiaofang, Zhou, Yulin, Guo, Qiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517332/
https://www.ncbi.nlm.nih.gov/pubmed/34659341
http://dx.doi.org/10.3389/fgene.2021.718503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517332/
https://www.ncbi.nlm.nih.gov/pubmed/34659341
http://dx.doi.org/10.3389/fgene.2021.718503

Ejemplares similares